CNV-WebStore: Online CNV Analysis, Storage and Interpretation

by Vandeweyer, Geert, Reyniers, Edwin, Wuyts, Wim, Rooms, Liesbeth, Kooy, R Frank
Published 2011

The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome

by Vandeweyer, Geert, Van der Aa, Nathalie, Reyniers, Edwin, Kooy, R. Frank
Published 2012

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome

by Jensen, Matthew, Kooy, R. Frank, Simon, Tony J., Reyniers, Edwin, Girirajan, Santhosh, Tassone, Flora
Published in Eur J Med Genet (2017)

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11

by Reyniers, Edwin, Van Bogaert, Patrick, Peeters, Nils, Vits, Lieve, Pauly, Fernand, Fransen, Erik, Van Regemorter, Nicole, Kooy, R. Frank
Published 1999

Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example

by Beysen, Diane, De Cordt, Chania, Dielman, Charlotte, Ogunjimi, Benson, Dandelooy, Julie, Reyniers, Edwin, Janssens, Katrien, Meuwissen, Marije M.E.
Published in Front Neurol (2021)

The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior

by Lenski, Claus , Frank Kooy, R. , Reyniers, Edwin , Loessner, Daniela , Wanders, Ronald J. A. , Winnepenninckx, Birgitta , Hellebrand, Heide , Engert, Stefanie , Schwartz, Charles E. , Meindl, Alfons , Ramser, Juliane 
Published 2007

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

by van der Werf, Ilse M, Buiting, Karin, Czeschik, Christina, Reyniers, Edwin, Vandeweyer, Geert, Vanhaesebrouck, Piet, Lüdecke, Hermann-Josef, Wieczorek, Dagmar, Horsthemke, Bernhard, Mortier, Geert, Leroy, Jules G, Kooy, R Frank
Published in Eur J Hum Genet (2016)

Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3)

by Holinski-Feder, Elke, Reyniers, Edwin, Uhrig, Sabine, Golla, Astrid, Wauters, Jan, Kroisel, Peter, Bossuyt, Paul, Rost, Imma, Jedele, Kerry, Zierler, Hannelore, Schwab, Sieglinde, Wildenauer, Dieter, Speicher, Michael R., Willems, Patrick J., Meitinger, Thomas, Kooy, R. Frank
Published 2000

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

by Metsu, Sofie, Rooms, Liesbeth, Rainger, Jacqueline, Taylor, Martin S., Bengani, Hemant, Wilson, David I., Chilamakuri, Chandra Sekhar Reddy, Morrison, Harris, Vandeweyer, Geert, Reyniers, Edwin, Douglas, Evelyn, Thompson, Geoffrey, Haan, Eric, Gecz, Jozef, FitzPatrick, David R., Kooy, R. Frank
Published 2014

Refinement of the Multiple Exostoses Locus (EXT2) to a 3-cM Interval on Chromosome 11

by Wuyts, Wim, Ramlakhan, Sarvan, Van Hul, Wim, Hecht, Jacqueline T., van den Ouweland, Ans M. W., Raskind, Wendy H., Hofstede, Floris C., Reyniers, Edwin, Wells, Dan E., de Vries, Bert, Conrad, Ernest U., Hill, April, Zalatayev, Dmitry, Weissenbach, Jean, Wagner, Michael J., Bakker, Egbert, Halley, Dicky J. J., Willems, Patrick J.
Published 1995

Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene

by Luyckx, Ilse, Kumar, Ajay A., Reyniers, Edwin, Dekeyser, Emily, Vanderstraeten, Kathleen, Vandeweyer, Geert, Wünnemann, Florian, Preuss, Christoph, Mazzella, Jean-Michaël, Goudot, Guillaume, Messas, Emmanuel, Albuisson, Juliette, Jeunemaitre, Xavier, Eriksson, Per, Mohamed, Salah A., Kempers, Marlies, Salemink, Simone, Duijnhouwer, Anthonie, Andelfinger, Gregor, Dietz, Harry C, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.
Published in Eur J Hum Genet (2019)

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

by Meester, Josephina A.N., Vandeweyer, Geert, Pintelon, Isabel, Lammens, Martin, Van Hoorick, Lana, De Belder, Simon, Waitzman, Kathryn, Young, Luciana, Markham, Larry W., Vogt, Julie, Richer, Julie, Beauchesne, Luc M., Unger, Sheila, Superti-Furga, Andrea, Prsa, Milan, Dhillon, Rami, Reyniers, Edwin, Dietz, Harry C., Wuyts, Wim, Mortier, Geert, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.
Published in Genet Med (2017)

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

by El Chehadeh, Salima, Kerstjens-Frederikse, Wilhelmina S, Thevenon, Julien, Kuentz, Paul, Bruel, Ange-Line, Thauvin-Robinet, Christel, Bensignor, Candace, Dollfus, Hélène, Laugel, Vincent, Rivière, Jean-Baptiste, Duffourd, Yannis, Bonnet, Caroline, Robert, Matthieu P, Isaiko, Rodica, Straub, Morgane, Creuzot-Garcher, Catherine, Calvas, Patrick, Chassaing, Nicolas, Loeys, Bart, Reyniers, Edwin, Vandeweyer, Geert, Kooy, Frank, Hančárová, Miroslava, Havlovicová, Marketa, Prchalová, Darina, Sedláček, Zdenek, Gilissen, Christian, Pfundt, Rolph, Wassink-Ruiter, Jolien S Klein, Faivre, Laurence
Published in Eur J Hum Genet (2017)